Canonical Allele Identifier: CA14580132
Gene: ME2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.50896615A>C , CM000680.2:g.50896615A>C GRCh38
NC_000018.9:g.48422985A>C , CM000680.1:g.48422985A>C GRCh37
NC_000018.8:g.46676983A>C NCBI36
NG_016198.1:g.22554A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000321341.11:c.108+687A>C MANE Select ENSP00000321070.5:n.108+687A>C
ENST00000638410.1:c.108+687A>C ENSP00000492272.1:n.108+687A>C
ENST00000638768.1:n.82+687A>C
ENST00000638937.1:c.108+687A>C ENSP00000492393.1:n.108+687A>C
ENST00000639115.1:c.108+687A>C ENSP00000492733.1:n.108+687A>C
ENST00000639255.1:c.108+687A>C ENSP00000492085.1:n.108+687A>C
ENST00000639398.1:c.108+687A>C ENSP00000492309.1:n.108+687A>C
ENST00000639612.1:c.104+687A>C
ENST00000639665.1:c.-3-11448A>C ENSP00000491520.1:n.-3-11448A>C
ENST00000639688.1:c.108+687A>C ENSP00000492377.1:n.108+687A>C
ENST00000639850.1:c.108+687A>C ENSP00000491152.1:n.108+687A>C
ENST00000640530.1:c.108+687A>C ENSP00000491724.1:n.108+687A>C
ENST00000640965.1:c.-3-11448A>C ENSP00000491954.1:n.-3-11448A>C
ENST00000640967.1:c.108+687A>C ENSP00000492067.1:n.108+687A>C
ENST00000321341.9:c.108+687A>C ENSP00000321070.5:n.108+687A>C
ENST00000382927.3:c.108+687A>C ENSP00000372384.2:n.108+687A>C
NM_001168335.1:c.108+687A>C NP_001161807.1:n.108+687A>C
NM_002396.4:c.108+687A>C NP_002387.1:n.108+687A>C
XR_935223.1:n.825+687A>C
XR_935223.2:n.727+687A>C
NM_002396.5:c.108+687A>C MANE Select NP_002387.1:n.108+687A>C
NM_001168335.2:c.108+687A>C NP_001161807.1:n.108+687A>C
NR_174094.1:n.311+687A>C
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